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Choroideremia presenting as vision loss secondary to choroidal neovascularization.
- Source :
-
Ophthalmic genetics [Ophthalmic Genet] 2024 Apr; Vol. 45 (2), pp. 175-179. Date of Electronic Publication: 2023 Aug 14. - Publication Year :
- 2024
-
Abstract
- Background: Choroidal neovascularization (CNV) is a rare complication of choroideremia that occurs secondary to relative atrophy of the retinal pigment epithelium and eventual rupture of Bruch's membrane. The ideal management of CNV in choroideremia is unclear.<br />Materials and Methods: Case report.<br />Observations: A 14-year-old male with no known ocular history presented to the eye emergency department complaining of a central scotoma in the right eye for 4 days. He had no past medical history and family history was unremarkable for known ocular disease. Visual acuity was 20/70 in the right eye and 20/30 in the left eye. Posterior segment exam revealed chorioretinal atrophy extending from the outer macula to the midperiphery in both eyes. There was CNV with associated subretinal hemorrhage in the right eye. Optical coherence tomography demonstrated the presence of CNV with subretinal fluid in the right eye and parafoveal outer retinal atrophy in both eyes. Genetic testing revealed a hemizygous exon 2 deletion on the CHM gene, pathogenic for choroideremia. The patient received a total of 3 injections 4 weeks apart followed by 1 injection 6 weeks later with resolution of the subretinal hemorrhage and reduction in CNV size with improvement in visual acuity to 20/20 at last follow-up exam.<br />Conclusions and Importance: Choroidal neovascularization is a rare cause of central vision loss in patients with choroideremia. In this report, we demonstrate a good functional and anatomic response to intravitreal bevacizumab in a 14-year-old patient with undiagnosed choroideremia who presented with CNV-induced central vision loss.
- Subjects :
- Male
Humans
Adolescent
Angiogenesis Inhibitors therapeutic use
Intravitreal Injections
Bevacizumab therapeutic use
Vision Disorders
Retinal Hemorrhage diagnosis
Retinal Hemorrhage etiology
Tomography, Optical Coherence
Atrophy complications
Fluorescein Angiography
Choroideremia complications
Choroideremia diagnosis
Choroideremia genetics
Choroidal Neovascularization diagnosis
Choroidal Neovascularization drug therapy
Choroidal Neovascularization etiology
Subjects
Details
- Language :
- English
- ISSN :
- 1744-5094
- Volume :
- 45
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Ophthalmic genetics
- Publication Type :
- Academic Journal
- Accession number :
- 37575054
- Full Text :
- https://doi.org/10.1080/13816810.2023.2245117